Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers.
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ABSTRACT:
SUBMITTER: Dickson DW
PROVIDER: S-EPMC6781370 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
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Extensive transcriptomic study emphasizes importance of vesicular transport in C9orf72 expansion carriers.
Dickson Dennis W DW Baker Matthew C MC Jackson Jazmyne L JL DeJesus-Hernandez Mariely M Finch NiCole A NA Tian Shulan S Heckman Michael G MG Pottier Cyril C Gendron Tania F TF Murray Melissa E ME Ren Yingxue Y Reddy Joseph S JS Graff-Radford Neill R NR Boeve Bradley F BF Petersen Ronald C RC Knopman David S DS Josephs Keith A KA Petrucelli Leonard L Oskarsson Björn B Sheppard John W JW Asmann Yan W YW Rademakers Rosa R van Blitterswijk Marka M
Acta neuropathologica communications 20191008 1
The majority of the clinico-pathological variability observed in patients harboring a repeat expansion in the C9orf72-SMCR8 complex subunit (C9orf72) remains unexplained. This expansion, which represents the most common genetic cause of frontotemporal lobar degeneration (FTLD) and motor neuron disease (MND), results in a loss of C9orf72 expression and the generation of RNA foci and dipeptide repeat (DPR) proteins. The C9orf72 protein itself plays a role in vesicular transport, serving as a guani ...[more]
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